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isolated congenital megalocornea - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated congenital megalocornea

MONDO:0010649

Also known as:congenital anterior megalophthalmiamegalocornea 1, X-linked, X-linked recessiveMGC1

Overview

Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.

GeneticsX-linked · CHRDL1 (chr X)

OnsetCONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Megalocornea, Iris transillumination defect, and Reduced visual acuity; and common findings: Corneal arcus. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	7	Mosaic corneal dystrophy, Lens subluxation, Retinal detachment

Age of onset: at birth.

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CHRDL1 encodes chordin like 1 (456 aa). Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Highest expression in Nerve Tibial (195.3 TPM) and Adipose Subcutaneous (180.5 TPM).

Isolated congenital megalocornea is associated with mutations in the CHRDL1 gene on chromosome X.

CHRDL1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for CHRDL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for isolated congenital megalocornea has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isolated congenital megalocornea.

16 publications have been identified in PubMed for isolated congenital megalocornea. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (20%), and Diagnostic / Biomarker (7%).

Research Type	Count	% of Total
Patient case studies	10	67%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309300

Orphanet

European rare disease database

Orphanet:91489

GARD

Genetic and Rare Diseases Info Center

GARD:12648

Questions for Your Care Team

→Should female family members consider carrier screening for CHRDL1?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

isolated congenital megalocornea

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

isolated congenital megalocornea

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications